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Cellosaurus FALS-2e2 (CVCL_RH73)

[Text version]
Cell line name FALS-2e2
Accession CVCL_RH73
Resource Identification Initiative To cite this cell line use: FALS-2e2 (RRID:CVCL_RH73)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4010; FUS; Simple; p.His517Asp (c.1549C>G); Zygosity=Heterozygous (PubMed=26997647).
Disease Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_RH74 ! FALS-2e3
CVCL_RH75 ! FALS-2e23
Sex of cell Male
Age at sampling 42Y
Category Induced pluripotent stem cell
Publications

PubMed=26997647; DOI=10.1016/j.stemcr.2016.02.011; PMCID=PMC4834049
Ichiyanagi N., Fujimori K., Yano M., Ishihara-Fujisaki C., Sone T., Akiyama T., Okada Y., Akamatsu W., Matsumoto T., Ishikawa M., Nishimoto Y., Ishihara Y., Sakuma T., Yamamoto T., Tsuiji H., Suzuki N., Warita H., Aoki M., Okano H.
Establishment of in vitro FUS-associated familial amyotrophic lateral sclerosis model using human induced pluripotent stem cells.
Stem Cell Reports 6:496-510(2016)

PubMed=30127392; DOI=10.1038/s41591-018-0140-5
Fujimori K., Ishikawa M., Otomo A., Atsuta N., Nakamura R., Akiyama T., Hadano S., Aoki M., Saya H., Sobue G., Okano H.
Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent.
Nat. Med. 24:1579-1589(2018)

Cross-references
Cell line databases/resources SKIP; SKIP000774
Encyclopedic resources Wikidata; Q54833229
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9